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Sh3pxd2b SH3 and PX domains 2B [ Mus musculus (house mouse) ]

Gene ID: 268396, updated on 18-Sep-2024

Summary

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Official Symbol
Sh3pxd2bprovided by MGI
Official Full Name
SH3 and PX domains 2Bprovided by MGI
Primary source
MGI:MGI:2442062
See related
Ensembl:ENSMUSG00000040711 AllianceGenome:MGI:2442062
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
TSK4; Tks4; fad49; G431001E03Rik
Summary
Enables SH2 domain binding activity and phosphatidylinositol phosphate binding activity. Involved in several processes, including animal organ development; osteoblast fate commitment; and podosome assembly. Located in cytoplasm and podosome. Is expressed in several structures, including branchial arch; central nervous system; heart; jaw; and skeleton. Used to study glaucoma and otitis media. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. Orthologous to human SH3PXD2B (SH3 and PX domains 2B). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in limb E14.5 (RPKM 16.7), subcutaneous fat pad adult (RPKM 14.8) and 22 other tissues See more
Orthologs
human all
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Genomic context

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See Sh3pxd2b in Genome Data Viewer
Location:
11 A4; 11 18.89 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (32297777..32378189)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (32347773..32428189)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46275 Neighboring gene hemoglobin, theta 1A Neighboring gene STARR-seq mESC enhancer starr_29106 Neighboring gene predicted gene, 51948 Neighboring gene ubiquitin domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E11474

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Analysis of Tks4 Knockout Mice Suggests a Role for Tks4 in Adipose Tissue Homeostasis in the Context of Beigeing. Vas V, et al. Cells, 2019 Aug 5. PMID 31387265, Free PMC Article
  2. Effect of ocular hypertension on the pattern of retinal ganglion cell subtype loss in a mouse model of early-onset glaucoma. Daniel S, et al. Exp Eye Res, 2019 Aug. PMID 31211954, Free PMC Article
  3. Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. Mao M, et al. Invest Ophthalmol Vis Sci, 2011 Apr. PMID 21282566, Free PMC Article
  4. Significance of the Tks4 scaffold protein in bone tissue homeostasis. Vas V, et al. Sci Rep, 2019 Apr 8. PMID 30962481, Free PMC Article
  5. The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages. Dülk M, et al. Sci Rep, 2016 Oct 6. PMID 27711054, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Enhanced endothelial motility and multicellular sprouting is mediated by the scaffold protein TKS4.
    Title: Enhanced endothelial motility and multicellular sprouting is mediated by the scaffold protein TKS4.
  2. Beigeing process was more robust in the WAT of Tks4-KO mice compared to the wild-type animals.
    Title: Analysis of Tks4 Knockout Mice Suggests a Role for Tks4 in Adipose Tissue Homeostasis in the Context of Beigeing.
  3. together, these results establish a novel function for Tks4 in the regulation of mesenchymal stromal cells differentiation.
    Title: The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages.
  4. Suggest the importance of Tks adaptor proteins in melanoma growth and metastasis in vivo is likely via functional invadopodia formation.
    Title: The role of Tks adaptor proteins in invadopodia formation, growth and metastasis of melanoma.
  5. eyes of B10-Sh3pxd2bnee mice exhibit multiple features of congenital glaucoma.
    Title: Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b.
  6. The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans.
    Title: Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media.
  7. These findings establish a role for TKS4 in Frank-Ter Haar syndrome and embryonic development.
    Title: Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
  8. SH3PXD2B is a podosomal-adaptor protein required for postnatal growth and development.
    Title: The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
  9. Tks4 has a role in the formation and function of podosomes.
    Title: The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation.
  10. Silencing of C/EBPdelta impaired the expression of factor for adipocyte differentiation (fad) 49, which is up-regulated and plays a crucial role early in adipogenesis.
    Title: The role of C/EBPdelta in the early stages of adipogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SH2 domain binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-3-phosphate binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-5-phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables superoxide-generating NADPH oxidase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in adipose tissue development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in bone development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in bone development ISO
Inferred from Sequence Orthology
more info
  
involved_in cranial skeletal system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in extracellular matrix disassembly ISO
Inferred from Sequence Orthology
more info
  
involved_in eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in eye development ISO
Inferred from Sequence Orthology
more info
  
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart development ISO
Inferred from Sequence Orthology
more info
  
involved_in osteoblast fate commitment IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in podosome assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of adipose tissue development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to membrane ISO
Inferred from Sequence Orthology
more info
  
involved_in protein localization to membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of brood size IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skeletal system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skeletal system development ISO
Inferred from Sequence Orthology
more info
  
involved_in skeletal system morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in superoxide anion generation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in superoxide metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in superoxide metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in podosome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
SH3 and PX domain-containing protein 2B
Names
factor for adipocyte differentiation 49
tyrosine kinase substrate with four SH3 domains

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_177364.4 → NP_796338.2  SH3 and PX domain-containing protein 2B

    See identical proteins and their annotated locations for NP_796338.2

    Status: VALIDATED

    Source sequence(s)
    AK089330, AL662780, BY197208
    Consensus CDS
    CCDS24526.1
    UniProtKB/Swiss-Prot
    A2AAY5, B6F0V1, Q1LZL8, Q1LZM5, Q3TB89, Q8BIC6
    UniProtKB/TrEMBL
    B9EJ37
    Related
    ENSMUSP00000044276.6, ENSMUST00000038753.6
    Conserved Domains (5) summary
    cd06888
    Location:7 → 125
    PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein
    cd12018
    Location:851 → 906
    SH3_Tks4_4; Fourth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12075
    Location:155 → 209
    SH3_Tks4_1; First Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12076
    Location:224 → 277
    SH3_Tks4_2; Second Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12078
    Location:372 → 424
    SH3_Tks4_3; Third Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    32297777..32378189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006514712.3 → XP_006514775.1  SH3 and PX domain-containing protein 2B isoform X1

    UniProtKB/TrEMBL
    A0A5F8MPP7, B9EJ37
    Related
    ENSMUSP00000158896.2, ENSMUST00000239041.2
    Conserved Domains (5) summary
    cd06888
    Location:7 → 125
    PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein
    cd12018
    Location:879 → 934
    SH3_Tks4_4; Fourth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12075
    Location:155 → 209
    SH3_Tks4_1; First Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12076
    Location:252 → 305
    SH3_Tks4_2; Second Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12078
    Location:400 → 452
    SH3_Tks4_3; Third Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2AAY5.1 GenPept UniProtKB/Swiss-Prot:A2AAY5

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